Canonical Allele Identifier: CA2341374

Gene: ABHD5

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.43711752C>T , CM000665.2:g.43711752C>T	GRCh38
NC_000003.11:g.43753244C>T , CM000665.1:g.43753244C>T	GRCh37
NC_000003.10:g.43728248C>T	NCBI36
NG_007090.3:g.25870C>T
NG_007090.5:g.25883C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_016006.6:c.550C>T MANE Select	NP_057090.2:p.Arg184Ter
ENST00000644371.2:c.550C>T MANE Select	ENSP00000495778.1:p.Arg184Ter
NM_001355186.1:c.550C>T	NP_001342115.1:p.Arg184Ter
NM_001355186.2:c.550C>T	NP_001342115.1:p.Arg184Ter
NM_001365649.1:c.427C>T	NP_001352578.1:p.Arg143Ter
NM_001365650.1:c.550C>T	NP_001352579.1:p.Arg184Ter
NM_016006.4:c.550C>T	NP_057090.2:p.Arg184Ter
NM_016006.5:c.550C>T	NP_057090.2:p.Arg184Ter
NR_158560.1:n.673C>T
ENST00000013894.2:c.*544C>T	ENSP00000013894.2:n.*544C>T
ENST00000013894.3:c.*544C>T	ENSP00000013894.2:n.*544C>T
ENST00000413300.1:c.46C>T	ENSP00000392159.1:p.Arg16Ter
ENST00000413300.2:c.44C>T
ENST00000454293.2:c.427C>T	ENSP00000412014.2:p.Arg143Ter
ENST00000458276.6:c.550C>T	ENSP00000390849.2:p.Arg184Ter
ENST00000458276.7:c.550C>T	ENSP00000390849.3:p.Arg184Ter
ENST00000642351.1:c.427C>T	ENSP00000494478.1:p.Arg143Ter
ENST00000643140.1:c.*24C>T	ENSP00000495588.1:n.*24C>T
ENST00000643477.1:c.*123C>T	ENSP00000496220.1:n.*123C>T
ENST00000643500.1:c.550C>T	ENSP00000494735.1:p.Arg184Ter
ENST00000643520.1:n.716C>T
ENST00000646378.1:c.*600C>T	ENSP00000495826.1:n.*600C>T
ENST00000646799.1:c.*24C>T	ENSP00000494829.1:n.*24C>T
ENST00000649763.1:c.550C>T	ENSP00000497701.1:p.Arg184Ter
XM_011533779.1:c.427C>T	XP_011532081.1:p.Arg143Ter
XM_011533780.1:c.550C>T	XP_011532082.1:p.Arg184Ter
XR_940447.1:n.607C>T